Limb girdle muscular dystrophy

Gene: FKTN

Green List (high evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 25 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:23 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
  • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • Limb-girdle muscular dystrophy
OMIM
607440
Clinvar variants
Variants in FKTN
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1408/
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

29 May 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for FKTN were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen